Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae
Purpose: To investigate molecular pathogenesis of congenital ectopia lentis accompanied by various ophthalmic manifestations. Methods: Three female siblings, their spouse and offspring underwent ophthalmic and general medical examinations. Genetic variants were screened with whole exome sequ...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier, Academic Press
2022
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| Subjects: | |
| Online Access: | https://repository.londonmet.ac.uk/7907/1/ADAMTSL4%20variants%20with%20primary%20phenotypes%28Third%20revised%20without%20marker%29.pdf |